Treacher-Collins Syndrome: Case Series

Yıl 2023, Cilt: 1 Sayı: 3, 79 - 82, 20.12.2023

Raghıb Suradı , Mohammad Amer Merve Yelken Kendirci Oyun Erdene Batgerel , Thekra Sardi

Öz

Aim The aim of our report is to describe the most common features and some of the associated complications of TCS and to report the involved genetic mutations that lead to this disorder.
Case Report Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, malar and mandibular hypoplasia which could lead to respiratory distress. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Moreover, TCS patients may require additional psychological care to avoid being rejected by society.
Discussion Treacher Collins syndrome (TCS) is one of the rare genetic disorders characterized by symmetrical craniofacial malformation without affecting the growth or neurological development. This autosomal dominant disorder has a variable degree of phenotypic expression.
Conclusion PTreacher Collins syndrome is rare and a complex congenital disorder with a variable degree of craniofacial deformity. It does not associate neurodevelopmental impairment. Patients usually suffer from social distancing and failure to integrate properly with the socitey due to their physical appearance. Taking care of these patients requires a multidisciplinary team and a reconstructive treatment is important for their social and psychological wellbeing.

Anahtar Kelimeler

Dentistry, Franceschetti-Zwahlen-Klein Syndromegenetic syndrome, Mandibulofacial dysostosis, Syndromes, Treacher Collins syndrome

Kaynakça

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